Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555725043
rs1555725043
NOTCH3
1 1.000 0.120 19 15161051 frameshift variant GTCCCGGCGCCAGTGGCAGCAGGAACGAGGGGCCTGGAGGGGCAGGTGGGGGCAGCCGGGCCCAATCGAGGGGCACAGCC/- del 0.700 1.000 1 2016 2016
dbSNP: rs773656789
rs773656789
NOTCH3
1 1.000 0.120 19 15160936 frameshift variant G/-;GG delins 0.700 1.000 1 2015 2015
dbSNP: rs796065045
rs796065045
NOTCH3
1 1.000 0.120 19 15161381 stop gained T/A snv 0.700 1.000 1 2015 2015
dbSNP: rs869312909
rs869312909
NOTCH3
1 1.000 0.120 19 15161142 frameshift variant CCCAGGCTGAGTACACATCCTCCAGG/- delins 0.700 1.000 1 2015 2015
dbSNP: rs869312910
rs869312910
NOTCH3
1 1.000 0.120 19 15160896 stop gained G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs869312911
rs869312911
NOTCH3
1 1.000 0.120 19 15160965 stop gained G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1236699193
rs1236699193
NOTCH3
3 0.882 0.120 19 15192202 missense variant C/A;T snv 4.1E-06 0.700 0
dbSNP: rs1555727841
rs1555727841
NOTCH3 ; MIR6795
3 0.882 0.120 19 15180103 missense variant C/T snv 0.700 0
dbSNP: rs201118034
rs201118034
NOTCH3
6 0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06 0.700 0
dbSNP: rs75068032
rs75068032
NOTCH3
5 0.851 0.160 19 15187273 missense variant G/A;C;T snv 2.4E-05; 5.2E-05 0.700 0
dbSNP: rs775267348
rs775267348
NOTCH3
3 0.882 0.120 19 15192020 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs777751303
rs777751303
NOTCH3
3 0.882 0.120 19 15187126 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0